K13N (p.Lys13Asn) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
K13N (p.Lys13Asn) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
K13N (p.Lys13Asn) variant details
- p.Lys13Asn
- gnomAD 11-2445137-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.29
- MetaLR 0.94
- MetaSVM 0.84
- CADD 22.20
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- Literature evidence available