V20I (p.Val20Ile) variant of RYR1 (Ryanodine receptor 1)
V20I (p.Val20Ile) in RYR1 (Ryanodine receptor 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Malignant hyperthermia, susceptibility to, 1. The record also includes variant effect predictions, population frequency data, and published literature.
V20I (p.Val20Ile) variant details
- p.Val20Ile
- rs913061393
- ClinGen CA308106627
- ClinVar RCV003988247
- ClinVar RCV004006194
- Uncertain significance
- not specified; Malignant hyperthermia, susceptibility to, 1
- Missense
- REVEL 0.58
- MetaLR 0.95
- MetaSVM 1.20
- CADD 24.90
- PolyPhen-2 0.98
- SIFT 0.09
- ClinVar: Uncertain significance (not specified; Malignant hyperthermia, susceptibility to, 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Cited in: Malignant hyperthermia genetic testing in North America Working Group Meeting. Bethesda, Maryland. September 4-5, 2002. (PMID 14870754)
- Cited in: Nonsyndromic Malignant Hyperthermia Susceptibility. (PMID 20301325)