M120I (p.Met120Ile) variant of LAMB3 (Laminin subunit beta-3)
M120I (p.Met120Ile) in LAMB3 (Laminin subunit beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
M120I (p.Met120Ile) variant details
- p.Met120Ile
- gnomAD rs1337650896
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.10
- CADD 13.10
- PolyPhen-2 0.01
- SIFT 0.57
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available