A11T (p.Ala11Thr) variant of LAMA3 (Laminin subunit alpha-3)
A11T (p.Ala11Thr) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
A11T (p.Ala11Thr) variant details
- p.Ala11Thr
- TOPMed rs1053428428
- gnomAD rs1053428428
- Missense
- Variant Prioritization Score for Impact Estimate 0.0698
- REVEL 0.01
- CADD 10.90
- PolyPhen-2 0.03
- SIFT 0.39
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available