P36A (p.Pro36Ala) variant of HADHB (P55084)
P36A (p.Pro36Ala) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
P36A (p.Pro36Ala) variant details
- p.Pro36Ala
- gnomAD 2-26254471-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.20
- CADD 8.26
- PolyPhen-2 0.00
- SIFT 0.26
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available