A5V (p.Ala5Val) variant of LAMA3 (Laminin subunit alpha-3)
A5V (p.Ala5Val) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
A5V (p.Ala5Val) variant details
- p.Ala5Val
- gnomAD 18-23689697-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0825
- REVEL 0.00
- CADD 8.89
- PolyPhen-2 0.01
- SIFT 0.11
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available