P17L (p.Pro17Leu) variant of MCCC2 (Q9HCC0)
P17L (p.Pro17Leu) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
P17L (p.Pro17Leu) variant details
- p.Pro17Leu
- ExAC rs746257649
- gnomAD rs746257649
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.22
- CADD 4.31
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available