A17S (p.Ala17Ser) variant of FH (P07954)
A17S (p.Ala17Ser) in FH (P07954) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A17S (p.Ala17Ser) variant details
- p.Ala17Ser
- ExAC rs755886213
- gnomAD rs755886213
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.40
- CADD 1.89
- PolyPhen-2 0.01
- SIFT 0.59
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available