P36T (p.Pro36Thr) variant of CALCA (P06881)
P36T (p.Pro36Thr) in CALCA (P06881) 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 0.12 / 1. The record also includes population frequency data.
P36T (p.Pro36Thr) variant details
- p.Pro36Thr
- ExAC rs776680257
- TOPMed rs776680257
- gnomAD rs776680257
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.115
- REVEL 0.07
- CADD 15.30
- PolyPhen-2 0.42
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.001)