D42Y (p.Asp42Tyr) variant of KCNE2 (Q9Y6J6)
D42Y (p.Asp42Tyr) in KCNE2 (Q9Y6J6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
D42Y (p.Asp42Tyr) variant details
- p.Asp42Tyr
- gnomAD 21-34370602-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.50
- ESM-1b 0.13
- AlphaMissense 0.18
- MetaLR 0.76
- MetaSVM 0.13
- CADD 24.90
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available