P75L (p.Pro75Leu) variant of MMADHC (Q9H3L0)
P75L (p.Pro75Leu) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
P75L (p.Pro75Leu) variant details
- p.Pro75Leu
- ExAC rs756998611
- gnomAD rs756998611
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- REVEL 0.94
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available