K5M (p.Lys5Met) variant of CALCA (P06881)
K5M (p.Lys5Met) in CALCA (P06881) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data.
K5M (p.Lys5Met) variant details
- p.Lys5Met
- gnomAD rs1555026452
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.46
- CADD 27.10
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)