D21E (p.Asp21Glu) variant of KCNJ5 (P48544)
D21E (p.Asp21Glu) in KCNJ5 (P48544) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
D21E (p.Asp21Glu) variant details
- p.Asp21Glu
- gnomAD rs1348543328
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.24
- MetaLR 0.26
- MetaSVM -0.77
- CADD 11.20
- PolyPhen-2 0.00
- SIFT 0.78
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available