P16S (p.Pro16Ser) variant of MMADHC (Q9H3L0)
P16S (p.Pro16Ser) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
P16S (p.Pro16Ser) variant details
- p.Pro16Ser
- cosmic curated COSV57573
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- REVEL 0.62
- CADD 22.60
- PolyPhen-2 0.02
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available