L8V (p.Leu8Val) variant of CDC73 (Parafibromin)
L8V (p.Leu8Val) in CDC73 (Parafibromin) 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.
L8V (p.Leu8Val) variant details
- p.Leu8Val
- gnomAD 1-193122222-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.71
- MetaLR 0.76
- MetaSVM 0.46
- CADD 22.80
- PolyPhen-2 0.38
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available