D48N (p.Asp48Asn) variant of KCNT1 (Q5JUK3)
D48N (p.Asp48Asn) in KCNT1 (Q5JUK3) 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, published literature, and structural context.
D48N (p.Asp48Asn) variant details
- p.Asp48Asn
- rs766377529
- gnomAD 9-135702349-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.08
- CADD 20.20
- PolyPhen-2 0.25
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available