R5L (p.Arg5Leu) variant of POLD1 (P28340)
R5L (p.Arg5Leu) in POLD1 (P28340) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
R5L (p.Arg5Leu) variant details
- p.Arg5Leu
- ExAC rs748471297
- TOPMed rs748471297
- gnomAD rs748471297
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.12
- CADD 24.50
- PolyPhen-2 0.17
- SIFT 0.00
- EBI: Likely benign (in dbSNP:rs9282830)
- UniProt: Likely benign (in dbSNP:rs9282830)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available