L32R (p.Leu32Arg) variant of CALCA (P06881)
L32R (p.Leu32Arg) in CALCA (P06881) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and published literature.
L32R (p.Leu32Arg) variant details
- p.Leu32Arg
- gnomAD 11-14970067-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.26
- CADD 17.00
- PolyPhen-2 0.20
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Literature evidence available