D77N (p.Asp77Asn) variant of WAS (P42768)
D77N (p.Asp77Asn) in WAS (P42768) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes structural context.
D77N (p.Asp77Asn) variant details
- p.Asp77Asn
- rs2147262921
- ClinGen CA412866556
- ClinVar RCV001420824
- Ensembl rs2147262921
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- AlphaMissense 0.79
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.84
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available