S50R (p.Ser50Arg) variant of SHANK1 (Q9Y566)
S50R (p.Ser50Arg) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
S50R (p.Ser50Arg) variant details
- p.Ser50Arg
- ExAC rs767950625
- TOPMed rs767950625
- gnomAD rs767950625
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.05
- MetaLR 0.06
- MetaSVM -1.03
- CADD 18.80
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available