V12I (p.Val12Ile) variant of PLP1 (Myelin proteolipid protein)
V12I (p.Val12Ile) in PLP1 (Myelin proteolipid protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
V12I (p.Val12Ile) variant details
- p.Val12Ile
- gnomAD X-103785611-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.23
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available