V171L (p.Val171Leu) variant of SHANK3 (Q9BYB0)
V171L (p.Val171Leu) in SHANK3 (Q9BYB0) is a missense change. Clinical records from ClinVar, EBI, 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 0.33 / 1. The record also includes structural context.
V171L (p.Val171Leu) variant details
- p.Val171Leu
- rs777686693
- ClinGen CA515251934
- ClinVar RCV002306173
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- AlphaMissense 0.12
- MetaLR 0.06
- MetaSVM -1.07
- MutPred 0.34
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available