R19P (p.Arg19Pro) variant of POLD1 (P28340)
R19P (p.Arg19Pro) in POLD1 (P28340) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R19P (p.Arg19Pro) variant details
- p.Arg19Pro
- 1000Genomes rs3218773
- ESP rs3218773
- ExAC rs3218773
- TOPMed rs3218773
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.10
- CADD 22.20
- PolyPhen-2 0.22
- SIFT 0.05
- EBI: Benign (in dbSNP:rs3218773)
- UniProt: Benign (in dbSNP:rs3218773)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available