A68S (p.Ala68Ser) variant of MPL (Thrombopoietin receptor)
A68S (p.Ala68Ser) in MPL (Thrombopoietin receptor) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
A68S (p.Ala68Ser) variant details
- p.Ala68Ser
- Ensembl rs1647007321
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.29
- MetaLR 0.36
- MetaSVM -0.57
- CADD 22.40
- PolyPhen-2 0.48
- SIFT 0.40
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available