H63N (p.His63Asn) variant of KCNJ5 (P48544)
H63N (p.His63Asn) in KCNJ5 (P48544) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
H63N (p.His63Asn) variant details
- p.His63Asn
- Ensembl rs1944497184
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.43
- MetaLR 0.81
- MetaSVM 0.57
- CADD 22.80
- PolyPhen-2 0.83
- SIFT 0.08
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available