R47Q (p.Arg47Gln) variant of ACVRL1 (Activin receptor type-1-like)
R47Q (p.Arg47Gln) in ACVRL1 (Activin receptor type-1-like) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
R47Q (p.Arg47Gln) variant details
- p.Arg47Gln
- rs774389618
- ClinGen CA6572823
- NCI-TCGA Cosmic COSV6635
- cosmic curated COSV66359
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.30
- CADD 6.34
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic (in HHT2)
- UniProt: Pathogenic (in HHT2)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available