N30K (p.Asn30Lys) variant of SHMT2 (P34897)
N30K (p.Asn30Lys) in SHMT2 (P34897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
N30K (p.Asn30Lys) variant details
- p.Asn30Lys
- rs771968637
- ClinGen CA385468889
- ClinVar RCV002992650
- ExAC rs771968637
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.01
- CADD 6.97
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:TUSCAN population (allele frequency 0.062)
- 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)