S38F (p.Ser38Phe) variant of COL3A1 (Collagen alpha-1(III) chain)
S38F (p.Ser38Phe) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
S38F (p.Ser38Phe) variant details
- p.Ser38Phe
- ExAC rs755509578
- gnomAD rs755509578
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.10
- MetaLR 0.15
- MetaSVM -1.00
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.72
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available