A2V (p.Ala2Val) variant of SDHD (O14521)
A2V (p.Ala2Val) 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- rs1440670464
- ClinGen CA382616615
- cosmic curated COSV54778
- ClinVar RCV002240475
- Uncertain significance
- Pheochromocytoma; Cowden syndrome 3; Carney-Stratakis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.49
- AlphaMissense 0.24
- MetaLR 0.78
- MetaSVM 0.22
- CADD 23.40
- PolyPhen-2 0.04
- ClinVar: Uncertain significance (Pheochromocytoma; Cowden syndrome 3; Carney-Stratakis syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-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)