V16I (p.Val16Ile) variant of PCCB (P05166)
V16I (p.Val16Ile) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
V16I (p.Val16Ile) variant details
- p.Val16Ile
- gnomAD 3-136250421-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.20
- ESM-1b 0.25
- AlphaMissense 0.12
- CADD 9.76
- PolyPhen-2 0.01
- SIFT 0.23
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available