K9T (p.Lys9Thr) variant of CHAMP1 (Q96JM3)
K9T (p.Lys9Thr) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
K9T (p.Lys9Thr) variant details
- p.Lys9Thr
- ExAC rs781909783
- gnomAD rs781909783
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.01
- MetaSVM -0.90
- CADD 23.00
- Most common in the Ashkenazi Jewish population (allele frequency 0.024)
- Structural context available