R82S (p.Arg82Ser) variant of ABCC4 (O15439)
R82S (p.Arg82Ser) 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 0.31 / 1. The record also includes population frequency data.
R82S (p.Arg82Ser) variant details
- p.Arg82Ser
- rs373968598
- ClinGen CA7019862
- ClinVar RCV004307414
- ESP rs373968598
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- CADD 22.40
- PolyPhen-2 0.10
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)