N82K (p.Asn82Lys) variant of ITPR2 (Q14571)
N82K (p.Asn82Lys) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
N82K (p.Asn82Lys) variant details
- p.Asn82Lys
- TOPMed rs1423510840
- gnomAD rs1423510840
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.37
- CADD 19.00
- PolyPhen-2 0.02
- SIFT 0.76
- Population evidence available
- Structural context available