K15N (p.Lys15Asn) variant of KCNE1 (P15382)
K15N (p.Lys15Asn) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K15N (p.Lys15Asn) variant details
- p.Lys15Asn
- gnomAD 21-34449590-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 9.60
- PolyPhen-2 0.13
- SIFT 0.08
- Most common in the South Asian population (allele frequency 1.6e-05)
- Structural context available
- Functional MAVE scores for KCNE1: score 1.56
- Literature evidence available