N43H (p.Asn43His) variant of RYR1 (Ryanodine receptor 1)
N43H (p.Asn43His) in RYR1 (Ryanodine receptor 1) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
N43H (p.Asn43His) variant details
- p.Asn43His
- gnomAD 19-38440826-A-C
- Missense
- REVEL 0.78
- MetaLR 0.96
- MetaSVM 1.12
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Literature evidence available