V51F (p.Val51Phe) variant of WAS (P42768)
V51F (p.Val51Phe) in WAS (P42768) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes structural context.
V51F (p.Val51Phe) variant details
- p.Val51Phe
- rs2147262778
- ClinGen CA412866143
- ClinVar RCV001570000
- Ensembl rs2147262778
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- AlphaMissense 0.90
- MetaLR 0.99
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.57
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available