M6V (p.Met6Val) variant of WAS (P42768)
M6V (p.Met6Val) in WAS (P42768) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Thrombocytopenia 1; Wiskott-Aldrich syndrome; X-linked severe congenital neutrop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
M6V (p.Met6Val) variant details
- p.Met6Val
- rs782730988
- ClinGen CA10403829
- ClinVar RCV002248938
- ClinVar RCV003774705
- Conflicting interpretations
- Thrombocytopenia 1; Wiskott-Aldrich syndrome; X-linked severe congenital neutrop
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.44
- CADD 1.89
- PolyPhen-2 0.00
- SIFT 0.64
- ClinVar: Conflicting classifications of pathogenicity (Thrombocytopenia 1; Wiskott-Aldrich syndrome; X-linked severe co)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:IBS population (allele frequency 0.0068)
- Structural context available
- Cited in: WAS-Related Disorders. (PMID 20301357)