N78K (p.Asn78Lys) variant of WAS (P42768)
N78K (p.Asn78Lys) in WAS (P42768) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
N78K (p.Asn78Lys) variant details
- p.Asn78Lys
- gnomAD rs1557006333
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.72
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available