S24C (p.Ser24Cys) variant of COL1A2 (Collagen alpha-2(I) chain)
S24C (p.Ser24Cys) 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 0.34 / 1. The record also includes population frequency data and structural context.
S24C (p.Ser24Cys) variant details
- p.Ser24Cys
- ExAC rs763546006
- gnomAD rs763546006
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.25
- CADD 21.50
- PolyPhen-2 0.11
- SIFT 0.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.7e-05)
- Structural context available