A2T (p.Ala2Thr) variant of LAMA3 (Laminin subunit alpha-3)
A2T (p.Ala2Thr) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- gnomAD 18-23689687-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.06
- CADD 22.80
- PolyPhen-2 0.06
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available