L30V (p.Leu30Val) variant of PRMT5 (O14744)
L30V (p.Leu30Val) in PRMT5 (O14744) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
L30V (p.Leu30Val) variant details
- p.Leu30Val
- ExAC rs760315574
- TOPMed rs760315574
- gnomAD rs760315574
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.19
- CADD 17.10
- PolyPhen-2 0.31
- SIFT 0.14
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00019)
- Structural context available