V45I (p.Val45Ile) variant of KCNT1 (Q5JUK3)
V45I (p.Val45Ile) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
V45I (p.Val45Ile) variant details
- p.Val45Ile
- rs1433663811
- gnomAD 9-135702295-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.123
- REVEL 0.03
- CADD 5.26
- PolyPhen-2 0.00
- SIFT 0.27
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available