N66D (p.Asn66Asp) variant of KCNJ5 (P48544)
N66D (p.Asn66Asp) in KCNJ5 (P48544) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
N66D (p.Asn66Asp) variant details
- p.Asn66Asp
- ExAC rs762464085
- gnomAD rs762464085
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.91
- MetaLR 0.91
- MetaSVM 1.04
- CADD 26.00
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available