S38S (p.Ser38Ser) variant of COL3A1 (Collagen alpha-1(III) chain)
S38S (p.Ser38Ser) in COL3A1 (Collagen alpha-1(III) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
S38S (p.Ser38Ser) variant details
- p.Ser38Ser
- rs141241764
- gnomAD 2-188984794-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.375
- CADD 9.32
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)