V16I (p.Val16Ile) variant of CALCA (P06881)
V16I (p.Val16Ile) in CALCA (P06881) is a missense change. Clinical records from ClinVar 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 0.18 / 1. The record also includes population frequency data.
V16I (p.Val16Ile) variant details
- p.Val16Ile
- ExAC rs782409765
- TOPMed rs782409765
- gnomAD rs782409765
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.03
- CADD 17.10
- PolyPhen-2 0.43
- SIFT 0.16
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)