K33N (p.Lys33Asn) variant of RYR1 (Ryanodine receptor 1)
K33N (p.Lys33Asn) in RYR1 (Ryanodine receptor 1) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
K33N (p.Lys33Asn) variant details
- p.Lys33Asn
- gnomAD 19-38440798-G-C
- Missense
- REVEL 0.57
- MetaLR 0.93
- MetaSVM 1.05
- CADD 23.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Literature evidence available