A61S (p.Ala61Ser) variant of PARK7 (Parkinson disease protein 7)
A61S (p.Ala61Ser) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
A61S (p.Ala61Ser) variant details
- p.Ala61Ser
- gnomAD 1-7965414-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.49
- MetaLR 0.54
- MetaSVM 0.08
- CADD 24.90
- PolyPhen-2 0.70
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available