A101T (p.Ala101Thr) variant of MCCC1 (Q96RQ3)
A101T (p.Ala101Thr) in MCCC1 (Q96RQ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; 3-methylcrotonyl-CoA carboxylase 1 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
A101T (p.Ala101Thr) variant details
- p.Ala101Thr
- rs775931500
- NCI-TCGA Cosmic COSV9965
- cosmic curated COSV99659
- ExAC rs775931500
- Uncertain significance
- Inborn genetic diseases; 3-methylcrotonyl-CoA carboxylase 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.61
- CADD 23.80
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; 3-methylcrotonyl-CoA carboxylase 1 defi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 9.3e-05)
- Structural context available