I54V (p.Ile54Val) variant of MCCC1 (Q96RQ3)
I54V (p.Ile54Val) 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.
I54V (p.Ile54Val) variant details
- p.Ile54Val
- gnomAD rs1183107033
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.30
- CADD 16.80
- PolyPhen-2 0.15
- SIFT 0.07
- Most common in the South Asian population (allele frequency 0.00012)
- Structural context available