P39R (p.Pro39Arg) variant of SDHD (O14521)
P39R (p.Pro39Arg) in SDHD (O14521) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
P39R (p.Pro39Arg) variant details
- p.Pro39Arg
- ExAC rs752689382
- TOPMed rs752689382
- gnomAD rs752689382
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.56
- CADD 9.48
- PolyPhen-2 0.22
- SIFT 0.14
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available