K162R (p.Lys162Arg) variant of SHANK1 (Q9Y566)
K162R (p.Lys162Arg) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
K162R (p.Lys162Arg) variant details
- p.Lys162Arg
- ExAC rs746029352
- gnomAD rs746029352
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.07
- MetaLR 0.04
- MetaSVM -1.09
- CADD 22.10
- PolyPhen-2 0.43
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available