P24L (p.Pro24Leu) variant of SDHD (O14521)
P24L (p.Pro24Leu) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Carney-Stratakis syndrome; Pheochromocy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature and structural context.
P24L (p.Pro24Leu) variant details
- p.Pro24Leu
- rs1865651909
- ClinGen CA382616937
- ClinVar RCV001920137
- ClinVar RCV005729579
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Carney-Stratakis syndrome; Pheochromocy
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- AlphaMissense 0.11
- MetaLR 0.55
- MetaSVM -0.49
- PolyPhen-2 0.00
- SIFT 0.65
- EVE 0.06
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Carney-Stratakis syndro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)
- Cited in: Genetics of Endocrine and Neuroendocrine Neoplasias (PDQ®): Health Professional Version. (PMID 26389271)