A31D (p.Ala31Asp) variant of LAMA3 (Laminin subunit alpha-3)
A31D (p.Ala31Asp) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A31D (p.Ala31Asp) variant details
- p.Ala31Asp
- gnomAD 18-23689775-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.03
- CADD 14.60
- PolyPhen-2 0.99
- SIFT 0.06
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available