M42I (p.Met42Ile) variant of CALCRL (Q16602)
M42I (p.Met42Ile) in CALCRL (Q16602) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
M42I (p.Met42Ile) variant details
- p.Met42Ile
- cosmic curated COSV10823
- TOPMed rs1377426721
- gnomAD rs1377426721
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.09
- CADD 20.00
- PolyPhen-2 0.00
- SIFT 0.38
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available