G11V (p.Gly11Val) variant of ALPL (P05186)
G11V (p.Gly11Val) in ALPL (P05186) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
G11V (p.Gly11Val) variant details
- p.Gly11Val
- gnomAD 1-21554113-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- REVEL 0.60
- CADD 20.70
- PolyPhen-2 0.11
- SIFT 0.30
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available