G39R (p.Gly39Arg) variant of COL1A2 (Collagen alpha-2(I) chain)
G39R (p.Gly39Arg) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data and structural context.
G39R (p.Gly39Arg) variant details
- p.Gly39Arg
- rs2484692020
- ClinGen CA368219063
- ClinVar RCV003293659
- ClinVar RCV003738424
- Conflicting interpretations
- not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- REVEL 0.97
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Cardiovascular phenotype)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available