p.His63 Val67del variant of KCNJ5 (P48544)
p.His63 Val67del in KCNJ5 (P48544) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
p.His63 Val67del variant details
- gnomAD 11-128911451-TGCA
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.532
- CADD 21.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available