V14F (p.Val14Phe) variant of PRPH2 (Peripherin-2)
V14F (p.Val14Phe) in PRPH2 (Peripherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
V14F (p.Val14Phe) variant details
- p.Val14Phe
- gnomAD rs1761920637
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.17
- CADD 23.40
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available