S24S (p.Ser24Ser) variant of COL1A2 (Collagen alpha-2(I) chain)
S24S (p.Ser24Ser) in COL1A2 (Collagen alpha-2(I) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S24S (p.Ser24Ser) variant details
- p.Ser24Ser
- rs753471051
- gnomAD 7-94397749-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.309
- CADD 17.40
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available