F16L (p.Phe16Leu) variant of SHANK2 (Q9UPX8)
F16L (p.Phe16Leu) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data.
F16L (p.Phe16Leu) variant details
- p.Phe16Leu
- gnomAD rs1555106908
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- CADD 21.10
- PolyPhen-2 0.00
- SIFT 0.33
- Most common in the South Asian population (allele frequency 3.8e-05)