T6M (p.Thr6Met) variant of NPHS1 (Nephrin)
T6M (p.Thr6Met) in NPHS1 (Nephrin) 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 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
T6M (p.Thr6Met) variant details
- p.Thr6Met
- rs150180768
- ClinGen CA9390946
- cosmic curated COSV10079
- ClinVar RCV003073965
- Likely benign
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0528
- REVEL 0.05
- CADD 0.03
- PolyPhen-2 0.00
- SIFT 0.38
- ClinVar: Likely benign (Inborn genetic diseases; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- 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)