K70N (p.Lys70Asn) variant of POLH (DNA polymerase eta)
K70N (p.Lys70Asn) 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 Xeroderma pigmentosum; 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.
K70N (p.Lys70Asn) variant details
- p.Lys70Asn
- rs149295738
- ClinGen CA3826906
- ClinVar RCV002259289
- ClinVar RCV004958508
- Uncertain significance
- Xeroderma pigmentosum; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.39
- ESM-1b 1.00
- AlphaMissense 0.20
- MetaLR 0.45
- MetaSVM -0.05
- CADD 27.30
- ClinVar: Uncertain significance (Xeroderma pigmentosum; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- 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)