P80L (p.Pro80Leu) variant of SHANK1 (Q9Y566)
P80L (p.Pro80Leu) in SHANK1 (Q9Y566) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
P80L (p.Pro80Leu) variant details
- p.Pro80Leu
- cosmic curated COSV10735
- Ensembl rs2089073257
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.26
- MetaLR 0.27
- MetaSVM -0.43
- CADD 31.00
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available