D27N (p.Asp27Asn) variant of SHANK1 (Q9Y566)
D27N (p.Asp27Asn) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
D27N (p.Asp27Asn) variant details
- p.Asp27Asn
- cosmic curated COSV10512
- 1000Genomes rs533410806
- ExAC rs533410806
- TOPMed rs533410806
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.07
- MetaLR 0.08
- MetaSVM -0.98
- CADD 23.90
- PolyPhen-2 0.35
- SIFT 0.00
- Most common in the HGDP:XIBO population (allele frequency 0.056)
- Structural context available