A107V (p.Ala107Val) variant of SHANK2 (Q9UPX8)
A107V (p.Ala107Val) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data.
A107V (p.Ala107Val) variant details
- p.Ala107Val
- cosmic curated COSV58323
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- CADD 25.30
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1e-05)