V144A (p.Val144Ala) variant of SHANK2 (Q9UPX8)
V144A (p.Val144Ala) in SHANK2 (Q9UPX8) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data.
V144A (p.Val144Ala) variant details
- p.Val144Ala
- 1000Genomes rs782270817
- ExAC rs782270817
- TOPMed rs782270817
- gnomAD rs782270817
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- CADD 25.70
- PolyPhen-2 0.88
- SIFT 0.01
- ClinVar: Likely benign (not provided)
- UniProt: Likely benign
- Most common in the 1KG:CHS population (allele frequency 0.0049)