G43C (p.Gly43Cys) variant of KCNT1 (Q5JUK3)
G43C (p.Gly43Cys) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
G43C (p.Gly43Cys) variant details
- p.Gly43Cys
- rs773228285
- gnomAD 9-135714596-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.09
- CADD 22.30
- PolyPhen-2 0.19
- SIFT 0.01
- Most common in the HGDP:DRUZE population (allele frequency 0.014)
- Structural context available
- Literature evidence available