V14M (p.Val14Met) variant of AQP5 (Aquaporin-5)
V14M (p.Val14Met) in AQP5 (Aquaporin-5) 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 0.58 / 1. The record also includes population frequency data and structural context.
V14M (p.Val14Met) variant details
- p.Val14Met
- rs776651494
- NCI-TCGA Cosmic COSV5222
- ExAC rs776651494
- gnomAD rs776651494
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.47
- CADD 23.60
- PolyPhen-2 0.67
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available