N120D (p.Asn120Asp) variant of COL11A1 (Collagen alpha-1(XI) chain)
N120D (p.Asn120Asp) in COL11A1 (Collagen alpha-1(XI) 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.
N120D (p.Asn120Asp) variant details
- p.Asn120Asp
- gnomAD rs1325493665
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.30
- ESM-1b 0.19
- AlphaMissense 0.14
- CADD 23.70
- PolyPhen-2 0.99
- SIFT 0.65
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available