K141R (p.Lys141Arg) variant of SHANK2 (Q9UPX8)
K141R (p.Lys141Arg) 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.
K141R (p.Lys141Arg) variant details
- p.Lys141Arg
- gnomAD rs1555099783
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- CADD 26.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)