P11T (p.Pro11Thr) variant of POLD1 (P28340)
P11T (p.Pro11Thr) in POLD1 (P28340) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
P11T (p.Pro11Thr) variant details
- p.Pro11Thr
- gnomAD 19-50398882-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0602
- REVEL 0.05
- CADD 2.06
- PolyPhen-2 0.01
- SIFT 0.33
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available