P10S (p.Pro10Ser) variant of KCNT1 (Q5JUK3)
P10S (p.Pro10Ser) 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.
P10S (p.Pro10Ser) variant details
- p.Pro10Ser
- rs1174574288
- gnomAD 9-135702286-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.04
- CADD 14.50
- PolyPhen-2 0.01
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available