D48Y (p.Asp48Tyr) variant of KCNT1 (Q5JUK3)
D48Y (p.Asp48Tyr) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
D48Y (p.Asp48Tyr) variant details
- p.Asp48Tyr
- rs766377529
- gnomAD 9-135702349-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.06
- AlphaMissense 0.07
- MetaLR 0.16
- MetaSVM -0.93
- CADD 22.70
- PolyPhen-2 0.00
- Population evidence available
- Structural context available
- Literature evidence available