V62F (p.Val62Phe) variant of SHANK2 (Q9UPX8)
V62F (p.Val62Phe) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data.
V62F (p.Val62Phe) variant details
- p.Val62Phe
- TOPMed rs1555106842
- gnomAD rs1555106842
- Missense
- Variant Prioritization Score for Impact Estimate 0.0877
- CADD 4.66
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the African/African-American population (allele frequency 4.8e-05)