S89L (p.Ser89Leu) variant of MMADHC (Q9H3L0)
S89L (p.Ser89Leu) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
S89L (p.Ser89Leu) variant details
- p.Ser89Leu
- gnomAD rs1365707483
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.21
- CADD 18.50
- PolyPhen-2 0.00
- SIFT 0.28
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available