V4I (p.Val4Ile) variant of MCCC2 (Q9HCC0)
V4I (p.Val4Ile) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
V4I (p.Val4Ile) variant details
- p.Val4Ile
- gnomAD rs1355867067
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.14
- CADD 4.65
- PolyPhen-2 0.00
- SIFT 0.57
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available