N175K (p.Asn175Lys) variant of SHANK3 (Q9BYB0)
N175K (p.Asn175Lys) in SHANK3 (Q9BYB0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of SHANK3-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
N175K (p.Asn175Lys) variant details
- p.Asn175Lys
- rs1253839794
- ClinGen CA515251973
- ClinVar RCV004539016
- Uncertain significance
- SHANK3-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.36
- MetaLR 0.22
- MetaSVM -0.73
- CADD 24.00
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: Uncertain significance (SHANK3-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available