V29I (p.Val29Ile) variant of AQP4 (Aquaporin-4)
V29I (p.Val29Ile) in AQP4 (Aquaporin-4) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
V29I (p.Val29Ile) variant details
- p.Val29Ile
- ESP rs369686896
- ExAC rs369686896
- TOPMed rs369686896
- gnomAD rs369686896
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.21
- CADD 15.10
- PolyPhen-2 0.00
- SIFT 0.95
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available