S5F (p.Ser5Phe) variant of MCCC1 (Q96RQ3)
S5F (p.Ser5Phe) in MCCC1 (Q96RQ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
S5F (p.Ser5Phe) variant details
- p.Ser5Phe
- ExAC rs771721641
- gnomAD rs771721641
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.44
- CADD 23.50
- PolyPhen-2 0.13
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available