A21V (p.Ala21Val) variant of MPL (Thrombopoietin receptor)
A21V (p.Ala21Val) in MPL (Thrombopoietin receptor) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A21V (p.Ala21Val) variant details
- p.Ala21Val
- NCI-TCGA Cosmic COSV6524
- cosmic curated COSV65246
- Ensembl rs2153916121
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.17
- MetaLR 0.29
- MetaSVM -0.84
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- TpoR activation by low dosage of Tpo: score 1.25