P20G (p.Pro20Gly) variant of LAMA3 (Laminin subunit alpha-3)
P20G (p.Pro20Gly) in LAMA3 (Laminin subunit alpha-3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
P20G (p.Pro20Gly) variant details
- p.Pro20Gly
- gnomAD 18-23689738-ACGCC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.652
- CADD 23.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available