D71N (p.Asp71Asn) variant of COL11A1 (Collagen alpha-1(XI) chain)
D71N (p.Asp71Asn) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
D71N (p.Asp71Asn) variant details
- p.Asp71Asn
- Ensembl rs1672522746
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- REVEL 0.66
- ESM-1b 1.00
- AlphaMissense 0.59
- CADD 27.20
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available