Y21C (p.Tyr21Cys) variant of MECOM (Q03112)
Y21C (p.Tyr21Cys) in MECOM (Q03112) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data.
Y21C (p.Tyr21Cys) variant details
- p.Tyr21Cys
- cosmic curated COSV99072
- ExAC rs771991577
- TOPMed rs771991577
- gnomAD rs771991577
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- CADD 21.10
- PolyPhen-2 0.30
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)