P11A (p.Pro11Ala) variant of KCNE1 (P15382)
P11A (p.Pro11Ala) in KCNE1 (P15382) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P11A (p.Pro11Ala) variant details
- p.Pro11Ala
- rs1981025573
- gnomAD 21-34449516-CCGTC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.68
- CADD 26.80
- Most common in the HGDP:SAN population (allele frequency 0.12)
- Structural context available
- Trafficking scores for KCNE1 in the absence of KCNQ1: score 1.07
- Literature evidence available