A24V (p.Ala24Val) variant of BMPR2 (Q13873)
A24V (p.Ala24Val) in BMPR2 (Q13873) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A24V (p.Ala24Val) variant details
- p.Ala24Val
- ESP rs370120266
- ExAC rs370120266
- TOPMed rs370120266
- gnomAD rs370120266
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.23
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available