N66Y (p.Asn66Tyr) variant of COL11A1 (Collagen alpha-1(XI) chain)
N66Y (p.Asn66Tyr) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
N66Y (p.Asn66Tyr) variant details
- p.Asn66Tyr
- TOPMed rs1672524361
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.40
- ESM-1b 1.00
- AlphaMissense 0.11
- CADD 23.30
- PolyPhen-2 0.36
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available