I111F (p.Ile111Phe) variant of COL11A1 (Collagen alpha-1(XI) chain)
I111F (p.Ile111Phe) 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 provided. 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.
I111F (p.Ile111Phe) variant details
- p.Ile111Phe
- rs759153754
- ClinGen CA975480
- ClinVar RCV001906977
- ClinVar RCV004738433
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.09
- ESM-1b 1.00
- AlphaMissense 0.13
- CADD 19.20
- PolyPhen-2 0.13
- SIFT 0.60
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available