G60S (p.Gly60Ser) variant of AQP2 (Aquaporin-2)
G60S (p.Gly60Ser) in AQP2 (Aquaporin-2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes structural context.
G60S (p.Gly60Ser) variant details
- p.Gly60Ser
- rs1014984131
- NCI-TCGA Cosmic COSV5222
- Ensembl rs1014984131
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- AlphaMissense 0.45
- MetaLR 0.91
- MetaSVM 1.03
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.44
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available