M42T (p.Met42Thr) variant of AQP7 (Aquaporin-7)
M42T (p.Met42Thr) in AQP7 (Aquaporin-7) 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.
M42T (p.Met42Thr) variant details
- p.Met42Thr
- Ensembl rs2118843013
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.27
- CADD 22.80
- PolyPhen-2 0.06
- SIFT 0.01
- Most common in the HGDP:ORCADIAN population (allele frequency 0.036)
- Structural context available