P7S (p.Pro7Ser) variant of POLD1 (P28340)
P7S (p.Pro7Ser) in POLD1 (P28340) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
P7S (p.Pro7Ser) variant details
- p.Pro7Ser
- rs2122193847
- ClinGen CA406969986
- ClinVar RCV002250303
- Ensembl rs2122193847
- Benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.14
- CADD 11.70
- PolyPhen-2 0.00
- SIFT 0.46
- ClinVar: Benign (not specified)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available