p.Pro65 Pro66insTrpAlaGlnLeuAlaA variant of KCNT1 (Q5JUK3)

Name: KCNT1 p.Pro65 Pro66insTrpAlaGlnLeuAlaA variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-19
License: https://catvariant.com/terms-of-use

p.Pro65 Pro66insTrpAlaGlnLeuAlaA in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.

p.Pro65 Pro66insTrpAlaGlnLeuAlaA variant details

gnomAD 9-135714659-C-CCC
Inframe Insertion
Variant Prioritization Score for Impact Estimate 0.573
CADD 17.90
Most common in the Non-Finnish European population (allele frequency 9.6e-07)
Structural context available
Literature evidence available