P49L (p.Pro49Leu) variant of COL1A2 (Collagen alpha-2(I) chain)
P49L (p.Pro49Leu) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
P49L (p.Pro49Leu) variant details
- p.Pro49Leu
- ExAC rs764064979
- TOPMed rs764064979
- gnomAD rs764064979
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.39
- CADD 21.20
- PolyPhen-2 0.06
- SIFT 0.08
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available