A24T (p.Ala24Thr) variant of BMPR2 (Q13873)
A24T (p.Ala24Thr) in BMPR2 (Q13873) 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 0.38 / 1. The record also includes population frequency data and structural context.
A24T (p.Ala24Thr) variant details
- p.Ala24Thr
- ESP rs377020025
- ExAC rs377020025
- TOPMed rs377020025
- gnomAD rs377020025
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.22
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.33
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available