S23Y (p.Ser23Tyr) variant of LAMC2 (Laminin subunit gamma-2)
S23Y (p.Ser23Tyr) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S23Y (p.Ser23Tyr) variant details
- p.Ser23Tyr
- gnomAD 1-183186420-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.23
- CADD 23.00
- PolyPhen-2 0.99
- SIFT 0.18
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available