A37V (p.Ala37Val) variant of HADHB (P55084)
A37V (p.Ala37Val) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
A37V (p.Ala37Val) variant details
- p.Ala37Val
- TOPMed rs1671938221
- gnomAD rs1671938221
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.41
- CADD 21.40
- PolyPhen-2 0.01
- SIFT 0.11
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available