S6R (p.Ser6Arg) variant of PURA (Q00577)
S6R (p.Ser6Arg) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
S6R (p.Ser6Arg) variant details
- p.Ser6Arg
- gnomAD 5-140114199-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.95
- CADD 23.40
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available