V29D (p.Val29Asp) variant of POLE (Q07864)
V29D (p.Val29Asp) in POLE (Q07864) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
V29D (p.Val29Asp) variant details
- p.Val29Asp
- rs2136034786
- ClinGen CA387370581
- ClinVar RCV002466218
- ClinVar RCV003679137
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- REVEL 0.13
- CADD 1.93
- PolyPhen-2 0.00
- SIFT 0.61
- ClinVar: Uncertain significance (not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available