V27M (p.Val27Met) variant of RYR1 (Ryanodine receptor 1)
V27M (p.Val27Met) in RYR1 (Ryanodine receptor 1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions, population frequency data, and published literature.
V27M (p.Val27Met) variant details
- p.Val27Met
- rs143481004
- ClinGen CA071214
- cosmic curated COSV62100
- ClinVar RCV000824571
- Likely benign
- Missense
- REVEL 0.31
- MetaLR 0.91
- MetaSVM 0.51
- CADD 23.60
- PolyPhen-2 0.98
- SIFT 0.20
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)