V63M (p.Val63Met) variant of AQP5 (Aquaporin-5)
V63M (p.Val63Met) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
V63M (p.Val63Met) variant details
- p.Val63Met
- TOPMed rs993506836
- gnomAD rs993506836
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- REVEL 0.53
- CADD 23.40
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available