V72M (p.Val72Met) variant of COL2A1 (Collagen alpha-1(II) chain)
V72M (p.Val72Met) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
V72M (p.Val72Met) variant details
- p.Val72Met
- rs755705390
- ClinGen CA6536074
- ClinVar RCV001230757
- ExAC rs755705390
- Conflicting interpretations
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0622
- REVEL 0.04
- CADD 4.16
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available