A68T (p.Ala68Thr) variant of MPL (Thrombopoietin receptor)
A68T (p.Ala68Thr) in MPL (Thrombopoietin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
A68T (p.Ala68Thr) variant details
- p.Ala68Thr
- cosmic curated COSV65247
- Ensembl rs1647007321
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.34
- MetaLR 0.39
- MetaSVM -0.48
- CADD 23.20
- PolyPhen-2 0.94
- SIFT 0.39
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available