R17P (p.Arg17Pro) variant of ACADM (P11310)
R17P (p.Arg17Pro) in ACADM (P11310) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
R17P (p.Arg17Pro) variant details
- p.Arg17Pro
- ESP rs17848070
- ExAC rs17848070
- TOPMed rs17848070
- gnomAD rs17848070
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.64
- CADD 13.60
- PolyPhen-2 0.30
- SIFT 0.05
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:HAN population (allele frequency 0.015)
- Structural context available