M85T (p.Met85Thr) variant of CALCRL (Q16602)
M85T (p.Met85Thr) in CALCRL (Q16602) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
M85T (p.Met85Thr) variant details
- p.Met85Thr
- TOPMed rs1039696766
- gnomAD rs1039696766
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.06
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.40
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available