P20T (p.Pro20Thr) variant of SHANK1 (Q9Y566)
P20T (p.Pro20Thr) in SHANK1 (Q9Y566) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
P20T (p.Pro20Thr) variant details
- p.Pro20Thr
- ESP rs201688212
- ExAC rs201688212
- TOPMed rs201688212
- gnomAD rs201688212
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.10
- MetaLR 0.05
- MetaSVM -1.06
- CADD 23.50
- PolyPhen-2 0.08
- SIFT 0.00
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 7.4e-05)
- Structural context available