P17R (p.Pro17Arg) variant of LAMA3 (Laminin subunit alpha-3)
P17R (p.Pro17Arg) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
P17R (p.Pro17Arg) variant details
- p.Pro17Arg
- gnomAD 18-23689733-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0574
- REVEL 0.06
- CADD 0.84
- PolyPhen-2 0.34
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available