A31T (p.Ala31Thr) variant of POLE (Q07864)
A31T (p.Ala31Thr) in POLE (Q07864) 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 0.33 / 1. The record also includes population frequency data and structural context.
A31T (p.Ala31Thr) variant details
- p.Ala31Thr
- 1000Genomes rs34047482
- ESP rs34047482
- ExAC rs34047482
- TOPMed rs34047482
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.22
- CADD 17.10
- PolyPhen-2 0.06
- SIFT 0.09
- EBI: Benign (in dbSNP:rs34047482)
- UniProt: Benign (in dbSNP:rs34047482)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available