F4C (p.Phe4Cys) variant of COL3A1 (Collagen alpha-1(III) chain)
F4C (p.Phe4Cys) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
F4C (p.Phe4Cys) variant details
- p.Phe4Cys
- ExAC rs766299663
- gnomAD rs766299663
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.47
- MetaLR 0.59
- MetaSVM 0.12
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.17
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available