P10S (p.Pro10Ser) variant of WAS (P42768)
P10S (p.Pro10Ser) in WAS (P42768) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Wiskott-Aldrich syndrome; X-linked severe congenital neutropenia; Thrombocytopen. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
P10S (p.Pro10Ser) variant details
- p.Pro10Ser
- rs2519277370
- ClinGen CA412865227
- ClinVar RCV003789913
- Uncertain significance
- Wiskott-Aldrich syndrome; X-linked severe congenital neutropenia; Thrombocytopen
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.42
- CADD 5.94
- PolyPhen-2 0.00
- SIFT 0.44
- ClinVar: Uncertain significance (Wiskott-Aldrich syndrome; X-linked severe congenital neutropenia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available
- Cited in: WAS-Related Disorders. (PMID 20301357)