S27G (p.Ser27Gly) variant of KMT2D (O14686)
S27G (p.Ser27Gly) in KMT2D (O14686) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S27G (p.Ser27Gly) variant details
- p.Ser27Gly
- rs1938323081
- ClinGen CA384690847
- ClinVar RCV001034325
- ClinVar RCV004986734
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.30
- MetaLR 0.22
- MetaSVM -0.83
- CADD 13.50
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:MSL population (allele frequency 0.013)
- 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)