S24R (p.Ser24Arg) variant of MCCC1 (Q96RQ3)
S24R (p.Ser24Arg) in MCCC1 (Q96RQ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
S24R (p.Ser24Arg) variant details
- p.Ser24Arg
- ExAC rs763642722
- TOPMed rs763642722
- gnomAD rs763642722
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.38
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 0.28
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 9.1e-05)
- Structural context available