V63I (p.Val63Ile) variant of CALCRL (Q16602)
V63I (p.Val63Ile) in CALCRL (Q16602) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
V63I (p.Val63Ile) variant details
- p.Val63Ile
- rs757975393
- ClinGen CA2020900
- ClinVar RCV004434516
- ExAC rs757975393
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0802
- REVEL 0.07
- CADD 3.27
- PolyPhen-2 0.00
- SIFT 0.60
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available