M14K (p.Met14Lys) variant of AQP3 (Aquaporin-3)
M14K (p.Met14Lys) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
M14K (p.Met14Lys) variant details
- p.Met14Lys
- gnomAD rs1409387650
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.22
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.30
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available