L12P (p.Leu12Pro) variant of COL2A1 (Collagen alpha-1(II) chain)
L12P (p.Leu12Pro) 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 0.72 / 1. The record also includes population frequency data and structural context.
L12P (p.Leu12Pro) variant details
- p.Leu12Pro
- rs2136652710
- ClinGen CA384528329
- ClinVar RCV001754481
- Ensembl rs2136652710
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.75
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.02
- 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