V31L (p.Val31Leu) variant of SUZ12 (Polycomb protein SUZ12)
V31L (p.Val31Leu) in SUZ12 (Polycomb protein SUZ12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
V31L (p.Val31Leu) variant details
- p.Val31Leu
- gnomAD 17-31937337-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.21
- MetaLR 0.41
- MetaSVM -0.73
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the East Asian population (allele frequency 3.4e-05)
- Structural context available
- Literature evidence available