L35F (p.Leu35Phe) variant of COL3A1 (Collagen alpha-1(III) chain)
L35F (p.Leu35Phe) in COL3A1 (Collagen alpha-1(III) 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 0.44 / 1. The record also includes population frequency data and structural context.
L35F (p.Leu35Phe) variant details
- p.Leu35Phe
- ESP rs368703012
- TOPMed rs368703012
- gnomAD rs368703012
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.25
- MetaLR 0.35
- MetaSVM -0.35
- CADD 23.90
- SIFT 0.14
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available