T17S (p.Thr17Ser) variant of BMPR2 (Q13873)
T17S (p.Thr17Ser) 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 0.21 / 1. The record also includes population frequency data and structural context.
T17S (p.Thr17Ser) variant details
- p.Thr17Ser
- ExAC rs766753997
- gnomAD rs766753997
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.15
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 0.88
- 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