A3V (p.Ala3Val) variant of LAMA3 (Laminin subunit alpha-3)
A3V (p.Ala3Val) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- Ensembl rs2145782285
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.01
- CADD 18.40
- PolyPhen-2 0.01
- SIFT 0.14
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available