S23P (p.Ser23Pro) variant of LAMC2 (Laminin subunit gamma-2)
S23P (p.Ser23Pro) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
S23P (p.Ser23Pro) variant details
- p.Ser23Pro
- gnomAD 1-183186419-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.17
- CADD 24.30
- PolyPhen-2 0.94
- SIFT 0.07
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available