L21S (p.Leu21Ser) variant of MMADHC (Q9H3L0)
L21S (p.Leu21Ser) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
L21S (p.Leu21Ser) variant details
- p.Leu21Ser
- TOPMed rs1238772425
- gnomAD rs1238772425
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.85
- CADD 28.20
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available