S32L (p.Ser32Leu) variant of SDHD (O14521)
S32L (p.Ser32Leu) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Carney-Stratakis syndrome; Cowden syndrome 3; Pheochromocytoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
S32L (p.Ser32Leu) variant details
- p.Ser32Leu
- rs104894305
- ClinGen CA382616984
- cosmic curated COSV54779
- ClinVar RCV001994938
- Uncertain significance
- Carney-Stratakis syndrome; Cowden syndrome 3; Pheochromocytoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- AlphaMissense 0.12
- MetaLR 0.62
- MetaSVM -0.04
- PolyPhen-2 0.00
- SIFT 0.21
- EVE 0.14
- ClinVar: Uncertain significance (Carney-Stratakis syndrome; Cowden syndrome 3; Pheochromocytoma)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)