Y8C (p.Tyr8Cys) variant of CALCRL (Q16602)
Y8C (p.Tyr8Cys) in CALCRL (Q16602) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
Y8C (p.Tyr8Cys) variant details
- p.Tyr8Cys
- TOPMed rs1341495595
- gnomAD rs1341495595
- Missense
- Variant Prioritization Score for Impact Estimate 0.0548
- REVEL 0.02
- CADD 6.44
- PolyPhen-2 0.00
- SIFT 0.23
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available