A20T (p.Ala20Thr) variant of LAMB3 (Laminin subunit beta-3)
A20T (p.Ala20Thr) in LAMB3 (Laminin subunit beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A20T (p.Ala20Thr) variant details
- p.Ala20Thr
- gnomAD rs2076552550
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.05
- CADD 18.90
- PolyPhen-2 0.10
- SIFT 0.36
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available