L72S (p.Leu72Ser) variant of COL3A1 (Collagen alpha-1(III) chain)
L72S (p.Leu72Ser) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
L72S (p.Leu72Ser) variant details
- p.Leu72Ser
- ExAC rs756472145
- gnomAD rs756472145
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.28
- MetaLR 0.30
- MetaSVM -0.67
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.53
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available