A31T (p.Ala31Thr) variant of LAMA3 (Laminin subunit alpha-3)
A31T (p.Ala31Thr) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
A31T (p.Ala31Thr) variant details
- p.Ala31Thr
- TOPMed rs2060543472
- gnomAD rs2060543472
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.01
- CADD 16.00
- PolyPhen-2 0.99
- SIFT 0.12
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available