L38V (p.Leu38Val) variant of POLD1 (P28340)
L38V (p.Leu38Val) in POLD1 (P28340) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Colorectal cancer, susceptibility to, 10. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
L38V (p.Leu38Val) variant details
- p.Leu38Val
- rs1484596172
- ClinGen CA406970165
- ClinVar RCV001224296
- TOPMed rs1484596172
- Uncertain significance
- Colorectal cancer, susceptibility to, 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.05
- CADD 22.40
- PolyPhen-2 0.95
- SIFT 0.08
- ClinVar: Uncertain significance (Colorectal cancer, susceptibility to, 10)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available