L12Q (p.Leu12Gln) variant of LAMA3 (Laminin subunit alpha-3)
L12Q (p.Leu12Gln) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
L12Q (p.Leu12Gln) variant details
- p.Leu12Gln
- ExAC rs769479220
- gnomAD rs769479220
- Missense
- Variant Prioritization Score for Impact Estimate 0.053
- REVEL 0.02
- CADD 5.70
- PolyPhen-2 0.01
- SIFT 0.32
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available