L21Q (p.Leu21Gln) variant of PURA (Q00577)
L21Q (p.Leu21Gln) 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.
L21Q (p.Leu21Gln) variant details
- p.Leu21Gln
- gnomAD 5-140114243-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 21.80
- PolyPhen-2 0.02
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available