A4S (p.Ala4Ser) variant of KCNT1 (Q5JUK3)
A4S (p.Ala4Ser) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
A4S (p.Ala4Ser) variant details
- p.Ala4Ser
- rs1835062307
- gnomAD 9-135702277-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.114
- REVEL 0.02
- CADD 11.50
- PolyPhen-2 0.04
- SIFT 0.13
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available