V14A (p.Val14Ala) variant of PRMT5 (O14744)
V14A (p.Val14Ala) in PRMT5 (O14744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
V14A (p.Val14Ala) variant details
- p.Val14Ala
- ESP rs369536280
- ExAC rs369536280
- gnomAD rs369536280
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.17
- CADD 25.40
- PolyPhen-2 0.86
- SIFT 0.28
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available