R21C (p.Arg21Cys) variant of ABCC4 (O15439)
R21C (p.Arg21Cys) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data.
R21C (p.Arg21Cys) variant details
- p.Arg21Cys
- cosmic curated COSV10890
- ExAC rs776398586
- gnomAD rs776398586
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- CADD 24.20
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)