R72Q (p.Arg72Gln) variant of KCNJ5 (P48544)
R72Q (p.Arg72Gln) in KCNJ5 (P48544) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
R72Q (p.Arg72Gln) variant details
- p.Arg72Gln
- cosmic curated COSV10061
- gnomAD rs1294878768
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- REVEL 0.91
- MetaLR 0.95
- MetaSVM 1.09
- CADD 28.80
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available