M17I (p.Met17Ile) variant of PARK7 (Parkinson disease protein 7)
M17I (p.Met17Ile) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
M17I (p.Met17Ile) variant details
- p.Met17Ile
- gnomAD rs1351385238
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.51
- CADD 23.30
- PolyPhen-2 0.02
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available