T41M (p.Thr41Met) variant of CALCA (P06881)
T41M (p.Thr41Met) 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 0.24 / 1. The record also includes population frequency data.
T41M (p.Thr41Met) variant details
- p.Thr41Met
- rs147263808
- ClinGen CA218215924
- ClinVar RCV004188690
- ESP rs147263808
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.07
- CADD 9.21
- PolyPhen-2 0.01
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:RUSSIAN population (allele frequency 0.02)