C21Y (p.Cys21Tyr) variant of LAMB3 (Laminin subunit beta-3)
C21Y (p.Cys21Tyr) in LAMB3 (Laminin subunit beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
C21Y (p.Cys21Tyr) variant details
- p.Cys21Tyr
- gnomAD rs1265014760
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.64
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available