M53I (p.Met53Ile) variant of CALCRL (Q16602)
M53I (p.Met53Ile) in CALCRL (Q16602) 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 structural context.
M53I (p.Met53Ile) variant details
- p.Met53Ile
- ExAC rs762707664
- TOPMed rs762707664
- gnomAD rs762707664
- cosmic curated COSV10113
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.06
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.58
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available