T21I (p.Thr21Ile) variant of CALCRL (Q16602)
T21I (p.Thr21Ile) 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 0.11 / 1. The record also includes population frequency data and structural context.
T21I (p.Thr21Ile) variant details
- p.Thr21Ile
- rs751281594
- ClinGen CA61841340
- ClinVar RCV004158321
- TOPMed rs751281594
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.109
- REVEL 0.09
- CADD 8.46
- PolyPhen-2 0.00
- SIFT 0.53
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available