L12V (p.Leu12Val) variant of LAMA3 (Laminin subunit alpha-3)
L12V (p.Leu12Val) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
L12V (p.Leu12Val) variant details
- p.Leu12Val
- Ensembl rs2060541809
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.01
- CADD 6.42
- PolyPhen-2 0.01
- SIFT 0.50
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available