V64I (p.Val64Ile) variant of PSEN2 (Presenilin-2)
V64I (p.Val64Ile) in PSEN2 (Presenilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
V64I (p.Val64Ile) variant details
- p.Val64Ile
- gnomAD rs1420351247
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.24
- CADD 0.92
- PolyPhen-2 0.03
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available