E119K (p.Glu119Lys) variant of SHANK2 (Q9UPX8)
E119K (p.Glu119Lys) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data.
E119K (p.Glu119Lys) variant details
- p.Glu119Lys
- Ensembl rs370116281
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- CADD 25.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)