L38V (p.Leu38Val) variant of AQP7 (Aquaporin-7)
L38V (p.Leu38Val) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
L38V (p.Leu38Val) variant details
- p.Leu38Val
- rs2381003
- UniProt VAR 061343
- ExAC rs2381003
- gnomAD rs2381003
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.39
- CADD 23.50
- PolyPhen-2 0.90
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available