K101R (p.Lys101Arg) variant of CHAMP1 (Q96JM3)
K101R (p.Lys101Arg) in CHAMP1 (Q96JM3) 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 and structural context.
K101R (p.Lys101Arg) variant details
- p.Lys101Arg
- gnomAD rs1555379364
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.00
- MetaSVM -0.91
- CADD 15.20
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available