D29A (p.Asp29Ala) variant of LAMC2 (Laminin subunit gamma-2)
D29A (p.Asp29Ala) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
D29A (p.Asp29Ala) variant details
- p.Asp29Ala
- gnomAD 1-183207887-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.42
- CADD 26.50
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available