D31A (p.Asp31Ala) variant of SHANK1 (Q9Y566)
D31A (p.Asp31Ala) in SHANK1 (Q9Y566) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
D31A (p.Asp31Ala) variant details
- p.Asp31Ala
- ExAC rs753824429
- TOPMed rs753824429
- gnomAD rs753824429
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.04
- MetaLR 0.05
- MetaSVM -0.98
- CADD 23.40
- PolyPhen-2 0.06
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available