P36del (p.Pro36del) variant of KCNT1 (Q5JUK3)
P36del (p.Pro36del) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
P36del (p.Pro36del) variant details
- rs745979475
- gnomAD 9-135702361-GCCC-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.155
- CADD 10.50
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available