V49I (p.Val49Ile) variant of PKD1 (Polycystin-1)
V49I (p.Val49Ile) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
V49I (p.Val49Ile) variant details
- p.Val49Ile
- Ensembl rs2092940602
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.13
- MetaLR 0.12
- MetaSVM -1.02
- CADD 23.90
- PolyPhen-2 0.76
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.2e-05)
- Structural context available