P85A (p.Pro85Ala) variant of COL11A1 (Collagen alpha-1(XI) chain)
P85A (p.Pro85Ala) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
P85A (p.Pro85Ala) variant details
- p.Pro85Ala
- ExAC rs775183408
- TOPMed rs775183408
- gnomAD rs775183408
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.45
- ESM-1b 1.00
- AlphaMissense 0.17
- CADD 26.20
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available