S75A (p.Ser75Ala) variant of KCNJ5 (P48544)
S75A (p.Ser75Ala) in KCNJ5 (P48544) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
S75A (p.Ser75Ala) variant details
- p.Ser75Ala
- gnomAD 11-128911495-G-GG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.476
- CADD 27.20
- Population evidence available
- Structural context available
- Literature evidence available