L126V (p.Leu126Val) variant of PRMT5 (O14744)
L126V (p.Leu126Val) in PRMT5 (O14744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
L126V (p.Leu126Val) variant details
- p.Leu126Val
- ESP rs368112038
- ExAC rs368112038
- TOPMed rs368112038
- gnomAD rs368112038
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.21
- CADD 19.80
- PolyPhen-2 0.07
- SIFT 0.49
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available