K57R (p.Lys57Arg) variant of CHAMP1 (Q96JM3)
K57R (p.Lys57Arg) in CHAMP1 (Q96JM3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Intellectual disability, autosomal dominant 40. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
K57R (p.Lys57Arg) variant details
- p.Lys57Arg
- rs782162864
- ClinGen CA7070586
- ClinVar RCV001196093
- ExAC rs782162864
- Uncertain significance
- Intellectual disability, autosomal dominant 40
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.30
- MetaLR 0.02
- MetaSVM -0.80
- CADD 25.90
- ClinVar: Uncertain significance (Intellectual disability, autosomal dominant 40)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.042)
- Structural context available