G13D (p.Gly13Asp) variant of KCNT1 (Q5JUK3)
G13D (p.Gly13Asp) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
G13D (p.Gly13Asp) variant details
- p.Gly13Asp
- rs763055585
- gnomAD 9-135702293-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0721
- REVEL 0.03
- CADD 9.55
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available