F5S (p.Phe5Ser) variant of ALPL (P05186)
F5S (p.Phe5Ser) in ALPL (P05186) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
F5S (p.Phe5Ser) variant details
- p.Phe5Ser
- gnomAD 1-21554095-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.60
- CADD 23.10
- PolyPhen-2 0.02
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available