P10R (p.Pro10Arg) variant of ABCC4 (O15439)
P10R (p.Pro10Arg) in ABCC4 (O15439) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data.
P10R (p.Pro10Arg) variant details
- p.Pro10Arg
- cosmic curated COSV65313
- ExAC rs767944183
- TOPMed rs767944183
- gnomAD rs767944183
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.35
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)