V61M (p.Val61Met) variant of SHANK2 (Q9UPX8)
V61M (p.Val61Met) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data.
V61M (p.Val61Met) variant details
- p.Val61Met
- cosmic curated COSV10063
- TOPMed rs1413638609
- gnomAD rs1413638609
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- CADD 21.00
- PolyPhen-2 0.32
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.00019)