K100N (p.Lys100Asn) variant of AQP3 (Aquaporin-3)
K100N (p.Lys100Asn) in AQP3 (Aquaporin-3) 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.
K100N (p.Lys100Asn) variant details
- p.Lys100Asn
- gnomAD rs1422821270
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.73
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available