L136V (p.Leu136Val) variant of SHANK2 (Q9UPX8)
L136V (p.Leu136Val) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data.
L136V (p.Leu136Val) variant details
- p.Leu136Val
- gnomAD rs1555100873
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- CADD 23.10
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.8e-05)