G19A (p.Gly19Ala) variant of KCNT1 (Q5JUK3)
G19A (p.Gly19Ala) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
G19A (p.Gly19Ala) variant details
- p.Gly19Ala
- rs146292575
- gnomAD 9-135702317-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.05
- CADD 7.73
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the HGDP:PATHAN population (allele frequency 0.083)
- Structural context available
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)