W11R (p.Trp11Arg) variant of AQP1 (Aquaporin-1)
W11R (p.Trp11Arg) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
W11R (p.Trp11Arg) variant details
- p.Trp11Arg
- gnomAD 7-30911940-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.91
- MetaLR 0.88
- MetaSVM 0.97
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available