P109R (p.Pro109Arg) variant of COL2A1 (Collagen alpha-1(II) chain)
P109R (p.Pro109Arg) in COL2A1 (Collagen alpha-1(II) chain) 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 0.74 / 1. The record also includes population frequency data and structural context.
P109R (p.Pro109Arg) variant details
- p.Pro109Arg
- rs140120720
- ClinGen CA6536016
- ClinVar RCV001699642
- ESP rs140120720
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- REVEL 0.69
- AlphaMissense 0.41
- MetaLR 0.93
- MetaSVM 1.06
- CADD 25.70
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available