S50N (p.Ser50Asn) variant of SHANK1 (Q9Y566)
S50N (p.Ser50Asn) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
S50N (p.Ser50Asn) variant details
- p.Ser50Asn
- Ensembl rs2089074439
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.07
- MetaLR 0.04
- MetaSVM -1.03
- CADD 11.00
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available