A35V (p.Ala35Val) variant of POLH (DNA polymerase eta)
A35V (p.Ala35Val) in POLH (DNA polymerase eta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A35V (p.Ala35Val) variant details
- p.Ala35Val
- rs569809153
- ClinGen CA3826874
- cosmic curated COSV64779
- ClinVar RCV000913815
- Conflicting interpretations
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.27
- ESM-1b 1.00
- AlphaMissense 0.19
- MetaLR 0.11
- MetaSVM -0.88
- CADD 21.80
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:JAPANESE population (allele frequency 0.018)
- 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)