R71= variant of MPL (Thrombopoietin receptor)
R71= in MPL (Thrombopoietin receptor) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; low impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
R71= variant details
- rs780738649
- NCI-TCGA Cosmic COSV1009
- NCI-TCGA Cosmic COSV6524
- Variant assessed as somatic; low impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- AlphaMissense 0.15
- MetaLR 0.07
- MetaSVM -1.03
- PolyPhen-2 0.00
- SIFT 0.11
- UniProt: Variant assessed as somatic; low impact.
- Population evidence available
- Structural context available