F21V (p.Phe21Val) variant of HADHB (P55084)
F21V (p.Phe21Val) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
F21V (p.Phe21Val) variant details
- p.Phe21Val
- ExAC rs756430935
- gnomAD rs756430935
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.52
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available