P81L (p.Pro81Leu) variant of SDHD (O14521)
P81L (p.Pro81Leu) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Pheochromocytoma/paraganglioma syndrome 1; Carney-Stratakis syndrome; Mitochondr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
P81L (p.Pro81Leu) variant details
- p.Pro81Leu
- rs80338844
- ClinGen CA016688
- cosmic curated COSV10585
- ClinVar RCV000007303
- Pathogenic/Likely pathogenic
- Pheochromocytoma/paraganglioma syndrome 1; Carney-Stratakis syndrome; Mitochondr
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- REVEL 0.91
- AlphaMissense 0.93
- MetaLR 0.98
- MetaSVM 1.07
- CADD 24.70
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Pheochromocytoma/paraganglioma syndrome 1; Carney-Stratakis synd)
- EBI: Pathogenic (in PPGL1)
- UniProt: Pathogenic (in PPGL1)
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Cited in: Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. (PMID 10657297)
- Cited in: Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma. (PMID 11156372)