F13I (p.Phe13Ile) variant of COL6A3 (Collagen alpha-3(VI) chain)
F13I (p.Phe13Ile) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. 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.
F13I (p.Phe13Ile) variant details
- p.Phe13Ile
- TOPMed rs2078452228
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.15
- MetaLR 0.44
- MetaSVM -0.60
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.43
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available