V21L (p.Val21Leu) variant of SHANK2 (Q9UPX8)
V21L (p.Val21Leu) in SHANK2 (Q9UPX8) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data.
V21L (p.Val21Leu) variant details
- p.Val21Leu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.117
- CADD 7.76
- PolyPhen-2 0.00
- SIFT 0.30
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)