S135F (p.Ser135Phe) variant of SHANK2 (Q9UPX8)
S135F (p.Ser135Phe) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data.
S135F (p.Ser135Phe) variant details
- p.Ser135Phe
- cosmic curated COSV10524
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- CADD 24.00
- PolyPhen-2 0.69
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)