P118L (p.Pro118Leu) variant of COL2A1 (Collagen alpha-1(II) chain)
P118L (p.Pro118Leu) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
P118L (p.Pro118Leu) variant details
- p.Pro118Leu
- rs777669076
- ClinGen CA6535979
- ClinVar RCV003141684
- ExAC rs777669076
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.66
- CADD 22.60
- PolyPhen-2 0.12
- SIFT 0.71
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available