V144L (p.Val144Leu) variant of SHANK2 (Q9UPX8)
V144L (p.Val144Leu) in SHANK2 (Q9UPX8) 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 0.59 / 1. The record also includes population frequency data.
V144L (p.Val144Leu) variant details
- p.Val144Leu
- ExAC rs782383078
- TOPMed rs782383078
- gnomAD rs782383078
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- CADD 22.80
- PolyPhen-2 0.20
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)