R27W (p.Arg27Trp) variant of LAMA3 (Laminin subunit alpha-3)
R27W (p.Arg27Trp) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
R27W (p.Arg27Trp) variant details
- p.Arg27Trp
- gnomAD 18-23689762-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.08
- CADD 14.00
- PolyPhen-2 0.26
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available