S36L (p.Ser36Leu) variant of MMADHC (Q9H3L0)
S36L (p.Ser36Leu) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
S36L (p.Ser36Leu) variant details
- p.Ser36Leu
- cosmic curated COSV57572
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.65
- CADD 24.10
- PolyPhen-2 0.57
- SIFT 0.11
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available