V129M (p.Val129Met) variant of SHANK2 (Q9UPX8)
V129M (p.Val129Met) in SHANK2 (Q9UPX8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data.
V129M (p.Val129Met) variant details
- p.Val129Met
- rs73521173
- ClinGen CA6162138
- cosmic curated COSV58353
- ClinVar RCV004703603
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0465
- CADD 0.05
- PolyPhen-2 0.01
- SIFT 0.10
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BIAKA population (allele frequency 0.5)