Y63N (p.Tyr63Asn) variant of MPL (Thrombopoietin receptor)
Y63N (p.Tyr63Asn) in MPL (Thrombopoietin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
Y63N (p.Tyr63Asn) variant details
- p.Tyr63Asn
- gnomAD 1-43338206-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- REVEL 0.76
- MetaLR 0.77
- MetaSVM 0.68
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available