L57P (p.Leu57Pro) variant of SHANK2 (Q9UPX8)
L57P (p.Leu57Pro) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data.
L57P (p.Leu57Pro) variant details
- p.Leu57Pro
- TOPMed rs1952668301
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- CADD 26.70
- PolyPhen-2 0.76
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.2e-05)