Q51Q (p.Gln51Gln) variant of KCNT1 (Q5JUK3)
Q51Q (p.Gln51Gln) in KCNT1 (Q5JUK3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
Q51Q (p.Gln51Gln) variant details
- p.Gln51Gln
- rs146152956
- gnomAD 9-135702357-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.101
- CADD 2.94
- Population evidence available
- Structural context available
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)