P140P (p.Pro140Pro) variant of AQP3 (Aquaporin-3)
P140P (p.Pro140Pro) in AQP3 (Aquaporin-3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
P140P (p.Pro140Pro) variant details
- p.Pro140Pro
- rs1563866785
- gnomAD 9-33442924-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.4
- AlphaMissense 0.12
- MetaLR 0.03
- MetaSVM -1.08
- CADD 12.10
- PolyPhen-2 0.04
- SIFT 0.04
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available