S22Y (p.Ser22Tyr) variant of LAMB3 (Laminin subunit beta-3)
S22Y (p.Ser22Tyr) 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.
S22Y (p.Ser22Tyr) variant details
- p.Ser22Tyr
- ESP rs147620922
- ExAC rs147620922
- TOPMed rs147620922
- gnomAD rs147620922
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.29
- CADD 26.30
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available