A29V (p.Ala29Val) variant of SDHD (O14521)
A29V (p.Ala29Val) 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; Carney-Stratakis syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature and structural context.
A29V (p.Ala29Val) variant details
- p.Ala29Val
- rs1555186774
- ClinGen CA382616965
- ClinVar RCV002233495
- Ensembl rs1555186774
- Uncertain significance
- Pheochromocytoma; Cowden syndrome 3; Carney-Stratakis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- AlphaMissense 0.09
- MetaLR 0.70
- MetaSVM 0.25
- PolyPhen-2 0.02
- SIFT 0.13
- EVE 0.12
- ClinVar: Uncertain significance (Pheochromocytoma; Cowden syndrome 3; Carney-Stratakis syndrome)
- 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)