S22P (p.Ser22Pro) variant of HADHB (P55084)
S22P (p.Ser22Pro) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
S22P (p.Ser22Pro) variant details
- p.Ser22Pro
- ExAC rs764430901
- gnomAD rs764430901
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.39
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available