A49V (p.Ala49Val) variant of POLH (DNA polymerase eta)
A49V (p.Ala49Val) in POLH (DNA polymerase eta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
A49V (p.Ala49Val) variant details
- p.Ala49Val
- rs1764457135
- ClinGen CA364274500
- ClinVar RCV004512223
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.72
- MetaSVM 0.56
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)