I3V (p.Ile3Val) variant of HADHB (P55084)
I3V (p.Ile3Val) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
I3V (p.Ile3Val) variant details
- p.Ile3Val
- ExAC rs766553932
- TOPMed rs766553932
- gnomAD rs766553932
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.20
- CADD 14.10
- PolyPhen-2 0.01
- SIFT 0.09
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available