F8S (p.Phe8Ser) variant of HADHB (P55084)
F8S (p.Phe8Ser) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
F8S (p.Phe8Ser) variant details
- p.Phe8Ser
- gnomAD 2-26254277-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.50
- CADD 19.40
- PolyPhen-2 0.02
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available