T70N (p.Thr70Asn) variant of KCNJ5 (P48544)
T70N (p.Thr70Asn) in KCNJ5 (P48544) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
T70N (p.Thr70Asn) variant details
- p.Thr70Asn
- gnomAD 11-128911482-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- REVEL 0.63
- MetaLR 0.91
- MetaSVM 0.96
- CADD 23.00
- PolyPhen-2 0.71
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available