S30L (p.Ser30Leu) variant of MCCC2 (Q9HCC0)
S30L (p.Ser30Leu) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
S30L (p.Ser30Leu) variant details
- p.Ser30Leu
- gnomAD rs1483894663
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.20
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available