F47I (p.Phe47Ile) variant of COL11A1 (Collagen alpha-1(XI) chain)
F47I (p.Phe47Ile) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Connective tissue disorder; not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
F47I (p.Phe47Ile) variant details
- p.Phe47Ile
- rs143159512
- ClinGen CA975543
- ClinVar RCV000680463
- ClinVar RCV002060857
- Likely benign
- Connective tissue disorder; not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.29
- CADD 23.00
- PolyPhen-2 0.29
- SIFT 0.15
- ClinVar: Likely benign (Connective tissue disorder; not provided; not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:FIN population (allele frequency 0.01)
- Structural context available