S103F (p.Ser103Phe) variant of MCCC1 (Q96RQ3)
S103F (p.Ser103Phe) in MCCC1 (Q96RQ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
S103F (p.Ser103Phe) variant details
- p.Ser103Phe
- cosmic curated COSV10504
- TOPMed rs1717921865
- gnomAD rs1717921865
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- REVEL 0.82
- CADD 22.70
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available