P73S (p.Pro73Ser) variant of CHM (P24386)
P73S (p.Pro73Ser) in CHM (P24386) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
P73S (p.Pro73Ser) variant details
- p.Pro73Ser
- rs775421659
- ClinGen CA10465620
- ClinVar RCV001416157
- ClinVar RCV004980460
- Likely benign
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.128
- REVEL 0.10
- MetaLR 0.05
- MetaSVM -1.00
- CADD 6.58
- PolyPhen-2 0.00
- SIFT 0.73
- ClinVar: Likely benign (Inborn genetic diseases; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00029)
- 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)