R8C (p.Arg8Cys) variant of CHAMP1 (Q96JM3)
R8C (p.Arg8Cys) in CHAMP1 (Q96JM3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. 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.
R8C (p.Arg8Cys) variant details
- p.Arg8Cys
- rs371511810
- ClinGen CA7070570
- cosmic curated COSV63523
- ClinVar RCV001311357
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.01
- MetaSVM -0.90
- CADD 23.80
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available