V94A (p.Val94Ala) variant of ABCC4 (O15439)
V94A (p.Val94Ala) in ABCC4 (O15439) is a missense change. Clinical records from ClinVar, EBI, 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 0.33 / 1. The record also includes population frequency data.
V94A (p.Val94Ala) variant details
- p.Val94Ala
- rs548353161
- ClinGen CA7019858
- ClinVar RCV004420282
- 1000Genomes rs548353161
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- CADD 14.90
- PolyPhen-2 0.01
- SIFT 0.13
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:STU population (allele frequency 0.0051)