S38P (p.Ser38Pro) variant of COL3A1 (Collagen alpha-1(III) chain)
S38P (p.Ser38Pro) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
S38P (p.Ser38Pro) variant details
- p.Ser38Pro
- gnomAD 2-188984792-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.23
- MetaLR 0.15
- MetaSVM -1.02
- CADD 6.92
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available