P49L (p.Pro49Leu) variant of COL2A1 (Collagen alpha-1(II) chain)
P49L (p.Pro49Leu) 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 0.70 / 1. The record also includes population frequency data and structural context.
P49L (p.Pro49Leu) variant details
- p.Pro49Leu
- rs774081386
- ClinGen CA6536086
- ClinVar RCV003323196
- ExAC rs774081386
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.66
- CADD 25.20
- PolyPhen-2 0.31
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available