P7S (p.Pro7Ser) variant of HADHB (P55084)
P7S (p.Pro7Ser) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
P7S (p.Pro7Ser) variant details
- p.Pro7Ser
- gnomAD 2-26254273-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.28
- CADD 1.22
- PolyPhen-2 0.00
- SIFT 0.73
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available