R10G (p.Arg10Gly) variant of LAMA3 (Laminin subunit alpha-3)
R10G (p.Arg10Gly) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
R10G (p.Arg10Gly) variant details
- p.Arg10Gly
- gnomAD 18-23689711-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0359
- REVEL 0.01
- CADD 1.51
- PolyPhen-2 0.00
- SIFT 0.34
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available