M120T (p.Met120Thr) variant of LAMB3 (Laminin subunit beta-3)
M120T (p.Met120Thr) in LAMB3 (Laminin subunit beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
M120T (p.Met120Thr) variant details
- p.Met120Thr
- ExAC rs765479137
- gnomAD rs765479137
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.13
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 0.10
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available