A5A (p.Ala5Ala) variant of LAMA3 (Laminin subunit alpha-3)
A5A (p.Ala5Ala) in LAMA3 (Laminin subunit alpha-3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A5A (p.Ala5Ala) variant details
- p.Ala5Ala
- rs2060541111
- gnomAD 18-23689698-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.379
- CADD 10.00
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available