M17K (p.Met17Lys) variant of CALCRL (Q16602)
M17K (p.Met17Lys) in CALCRL (Q16602) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
M17K (p.Met17Lys) variant details
- p.Met17Lys
- TOPMed rs1433379180
- gnomAD rs1433379180
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.17
- CADD 10.60
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available