F20I (p.Phe20Ile) variant of COL6A3 (Collagen alpha-3(VI) chain)
F20I (p.Phe20Ile) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
F20I (p.Phe20Ile) variant details
- p.Phe20Ile
- rs1261167748
- ClinGen CA351229209
- ClinVar RCV003145821
- gnomAD rs1261167748
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.09
- MetaLR 0.27
- MetaSVM -0.78
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.80
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available