P41L (p.Pro41Leu) variant of SDHD (O14521)
P41L (p.Pro41Leu) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary cancer-predisposing syndrome; Cowden syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
P41L (p.Pro41Leu) variant details
- p.Pro41Leu
- rs753724042
- ClinGen CA070627
- ClinVar RCV002234755
- ClinVar RCV002370133
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome; Cowden syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.62
- CADD 17.40
- PolyPhen-2 0.13
- SIFT 0.12
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome; Cowden sy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 7e-05)
- 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)