A36T (p.Ala36Thr) variant of LAMA3 (Laminin subunit alpha-3)
A36T (p.Ala36Thr) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A36T (p.Ala36Thr) variant details
- p.Ala36Thr
- gnomAD 18-23689789-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.02
- CADD 24.00
- PolyPhen-2 0.56
- SIFT 0.03
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available