R40R (p.Arg40Arg) variant of KCNT1 (Q5JUK3)
R40R (p.Arg40Arg) in KCNT1 (Q5JUK3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
R40R (p.Arg40Arg) variant details
- p.Arg40Arg
- rs775807509
- gnomAD 9-135702331-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.113
- CADD 4.59
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Literature evidence available