G73S (p.Gly73Ser) variant of AQP7 (Aquaporin-7)
G73S (p.Gly73Ser) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
G73S (p.Gly73Ser) variant details
- p.Gly73Ser
- cosmic curated COSV99953
- gnomAD rs1374071314
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.47
- CADD 21.90
- PolyPhen-2 0.64
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available