P36A (p.Pro36Ala) variant of CALCA (P06881)
P36A (p.Pro36Ala) in CALCA (P06881) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data.
P36A (p.Pro36Ala) variant details
- p.Pro36Ala
- ExAC rs776680257
- TOPMed rs776680257
- gnomAD rs776680257
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.11
- CADD 14.40
- PolyPhen-2 0.34
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)