S24F (p.Ser24Phe) variant of COL1A2 (Collagen alpha-2(I) chain)
S24F (p.Ser24Phe) in COL1A2 (Collagen alpha-2(I) 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 0.33 / 1. The record also includes population frequency data and structural context.
S24F (p.Ser24Phe) variant details
- p.Ser24Phe
- ExAC rs763546006
- gnomAD rs763546006
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.22
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.70
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0002)
- Structural context available