K13T (p.Lys13Thr) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
K13T (p.Lys13Thr) 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
K13T (p.Lys13Thr) variant details
- p.Lys13Thr
- gnomAD 11-2445136-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.93
- MetaSVM 0.87
- CADD 20.30
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available
- Literature evidence available