A2S (p.Ala2Ser) variant of LAMA3 (Laminin subunit alpha-3)
A2S (p.Ala2Ser) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- gnomAD 18-23689687-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.07
- CADD 22.30
- PolyPhen-2 0.03
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available