A2V (p.Ala2Val) variant of SPTBN4 (Q9H254)
A2V (p.Ala2Val) in SPTBN4 (Q9H254) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- rs139091351
- cosmic curated COSV10015
- ESP rs139091351
- ExAC rs139091351
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- CADD 24.70
- PolyPhen-2 0.96
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.6e-05)
- Structural context available