H122P (p.His122Pro) variant of COL11A1 (Collagen alpha-1(XI) chain)
H122P (p.His122Pro) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
H122P (p.His122Pro) variant details
- p.His122Pro
- rs1315092621
- ClinGen CA341167895
- ClinVar RCV002038565
- ClinVar RCV003994381
- Conflicting interpretations
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.19
- ESM-1b 1.00
- AlphaMissense 0.34
- CADD 23.90
- PolyPhen-2 0.14
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available