P46L (p.Pro46Leu) variant of COL1A2 (Collagen alpha-2(I) chain)
P46L (p.Pro46Leu) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
P46L (p.Pro46Leu) variant details
- p.Pro46Leu
- cosmic curated COSV10964
- TOPMed rs1172711296
- gnomAD rs1172711296
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.30
- CADD 19.00
- PolyPhen-2 0.02
- SIFT 0.82
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available