S13W (p.Ser13Trp) variant of LAMC2 (Laminin subunit gamma-2)
S13W (p.Ser13Trp) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
S13W (p.Ser13Trp) variant details
- p.Ser13Trp
- ExAC rs773517261
- gnomAD rs773517261
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.08
- CADD 15.10
- PolyPhen-2 0.00
- SIFT 0.19
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available