A34G (p.Ala34Gly) variant of HADHB (P55084)
A34G (p.Ala34Gly) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
A34G (p.Ala34Gly) variant details
- p.Ala34Gly
- cosmic curated COSV10050
- gnomAD rs1671531344
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.26
- CADD 22.40
- PolyPhen-2 0.02
- SIFT 0.10
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available