A4T (p.Ala4Thr) variant of KCNT1 (Q5JUK3)
A4T (p.Ala4Thr) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A4T (p.Ala4Thr) variant details
- p.Ala4Thr
- gnomAD 9-135702277-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.02
- CADD 17.10
- PolyPhen-2 0.03
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available