D71V (p.Asp71Val) variant of COL11A1 (Collagen alpha-1(XI) chain)
D71V (p.Asp71Val) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
D71V (p.Asp71Val) variant details
- p.Asp71Val
- ExAC rs755917103
- TOPMed rs755917103
- gnomAD rs755917103
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.90
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available