K44N (p.Lys44Asn) variant of COL4A5 (Collagen alpha-5(IV) chain)
K44N (p.Lys44Asn) in COL4A5 (Collagen alpha-5(IV) chain) 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 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
K44N (p.Lys44Asn) variant details
- p.Lys44Asn
- rs752179960
- cosmic curated COSV60361
- ClinGen CA10488365
- ClinVar RCV003008098
- Conflicting interpretations
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.53
- MetaLR 0.73
- MetaSVM 0.34
- CADD 22.80
- PolyPhen-2 0.22
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 2.2e-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)