Y78C (p.Tyr78Cys) variant of LAMB3 (Laminin subunit beta-3)
Y78C (p.Tyr78Cys) in LAMB3 (Laminin subunit beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
Y78C (p.Tyr78Cys) variant details
- p.Tyr78Cys
- cosmic curated COSV61916
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.23
- CADD 24.00
- PolyPhen-2 0.33
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available