R20S (p.Arg20Ser) variant of HADHB (P55084)
R20S (p.Arg20Ser) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R20S (p.Arg20Ser) variant details
- p.Arg20Ser
- gnomAD 2-26254314-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.48
- CADD 21.30
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available