P78L (p.Pro78Leu) variant of COL2A1 (Collagen alpha-1(II) chain)
P78L (p.Pro78Leu) 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 0.52 / 1. The record also includes population frequency data and structural context.
P78L (p.Pro78Leu) variant details
- p.Pro78Leu
- rs952199404
- ClinGen CA236494877
- ClinVar RCV003820051
- TOPMed rs952199404
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.46
- CADD 23.10
- PolyPhen-2 0.09
- SIFT 0.23
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available