R27Q (p.Arg27Gln) variant of LAMA3 (Laminin subunit alpha-3)
R27Q (p.Arg27Gln) 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 and structural context.
R27Q (p.Arg27Gln) variant details
- p.Arg27Gln
- TOPMed rs1337980671
- gnomAD rs1337980671
- Missense
- Variant Prioritization Score for Impact Estimate 0.0385
- REVEL 0.01
- CADD 1.53
- PolyPhen-2 0.00
- SIFT 0.63
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available