C71R (p.Cys71Arg) variant of SHANK2 (Q9UPX8)
C71R (p.Cys71Arg) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data.
C71R (p.Cys71Arg) variant details
- p.Cys71Arg
- Ensembl rs1565461848
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- CADD 25.90
- PolyPhen-2 0.84
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.8e-05)