V102G (p.Val102Gly) variant of AQP4 (Aquaporin-4)
V102G (p.Val102Gly) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
V102G (p.Val102Gly) variant details
- p.Val102Gly
- cosmic curated COSV67219
- Ensembl rs2144968569
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.86
- CADD 26.30
- PolyPhen-2 0.76
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available