V44L (p.Val44Leu) variant of COL3A1 (Collagen alpha-1(III) chain)
V44L (p.Val44Leu) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
V44L (p.Val44Leu) variant details
- p.Val44Leu
- 1000Genomes rs79632685
- ESP rs79632685
- ExAC rs79632685
- TOPMed rs79632685
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.55
- MetaLR 0.60
- MetaSVM 0.34
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.04
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available