A21S (p.Ala21Ser) variant of MPL (Thrombopoietin receptor)
A21S (p.Ala21Ser) in MPL (Thrombopoietin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A21S (p.Ala21Ser) variant details
- p.Ala21Ser
- gnomAD 1-43337909-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.18
- MetaLR 0.29
- MetaSVM -0.74
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- TpoR activation by low dosage of Tpo: score 1.25
- Literature evidence available