V40I (p.Val40Ile) variant of PMS1 (PMS1 protein homolog 1)
V40I (p.Val40Ile) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V40I (p.Val40Ile) variant details
- p.Val40Ile
- ExAC rs746784366
- gnomAD rs746784366
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.23
- CADD 14.70
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.387