A20S (p.Ala20Ser) variant of AQP1 (Aquaporin-1)
A20S (p.Ala20Ser) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
A20S (p.Ala20Ser) variant details
- p.Ala20Ser
- gnomAD 7-30911967-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- REVEL 0.68
- MetaLR 0.78
- MetaSVM 0.71
- CADD 24.80
- PolyPhen-2 0.60
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available