L12I (p.Leu12Ile) variant of CALCRL (Q16602)
L12I (p.Leu12Ile) in CALCRL (Q16602) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
L12I (p.Leu12Ile) variant details
- p.Leu12Ile
- NCI-TCGA Cosmic COSV6647
- cosmic curated COSV66475
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.03
- CADD 6.99
- PolyPhen-2 0.00
- SIFT 0.23
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available