C32R (p.Cys32Arg) variant of LAMA3 (Laminin subunit alpha-3)
C32R (p.Cys32Arg) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
C32R (p.Cys32Arg) variant details
- p.Cys32Arg
- gnomAD 18-23689777-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.104
- REVEL 0.08
- CADD 9.45
- PolyPhen-2 0.05
- SIFT 0.37
- Population evidence available
- Structural context available
- Literature evidence available