A12V (p.Ala12Val) variant of CHAMP1 (Q96JM3)
A12V (p.Ala12Val) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
A12V (p.Ala12Val) variant details
- p.Ala12Val
- gnomAD 13-114323877-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.123
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 12.20
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available
- Literature evidence available