H122N (p.His122Asn) variant of COL11A1 (Collagen alpha-1(XI) chain)
H122N (p.His122Asn) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
H122N (p.His122Asn) variant details
- p.His122Asn
- cosmic curated COSV62196
- gnomAD rs1469555372
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.10
- ESM-1b 0.33
- AlphaMissense 0.06
- CADD 23.40
- PolyPhen-2 0.04
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available