G43R (p.Gly43Arg) variant of KCNT1 (Q5JUK3)
G43R (p.Gly43Arg) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
G43R (p.Gly43Arg) variant details
- p.Gly43Arg
- rs773228285
- gnomAD 9-135714596-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.14
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- Literature evidence available