P41S (p.Pro41Ser) variant of SDHD (O14521)
P41S (p.Pro41Ser) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pheochromocytoma; Cowden syndrome 3; Paragangliomas with sensorineural hearing l. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
P41S (p.Pro41Ser) variant details
- p.Pro41Ser
- rs764006625
- ClinGen CA070618
- cosmic curated COSV54779
- ClinVar RCV002241304
- Uncertain significance
- Pheochromocytoma; Cowden syndrome 3; Paragangliomas with sensorineural hearing l
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.57
- CADD 21.20
- PolyPhen-2 0.01
- SIFT 0.11
- ClinVar: Uncertain significance (Pheochromocytoma; Cowden syndrome 3; Paragangliomas with sensori)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)