G54V (p.Gly54Val) variant of SHANK2 (Q9UPX8)
G54V (p.Gly54Val) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data.
G54V (p.Gly54Val) variant details
- p.Gly54Val
- cosmic curated COSV58317
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- CADD 13.60
- PolyPhen-2 0.01
- SIFT 0.50
- Population evidence available