L21V (p.Leu21Val) variant of PURA (Q00577)
L21V (p.Leu21Val) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
L21V (p.Leu21Val) variant details
- p.Leu21Val
- gnomAD 5-140114242-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 16.80
- PolyPhen-2 0.01
- SIFT 0.48
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available