D4E (p.Asp4Glu) variant of KCNJ5 (P48544)
D4E (p.Asp4Glu) in KCNJ5 (P48544) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
D4E (p.Asp4Glu) variant details
- p.Asp4Glu
- cosmic curated COSV10440
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.47
- MetaLR 0.59
- MetaSVM -0.61
- CADD 14.30
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available