P10T (p.Pro10Thr) variant of CHAMP1 (Q96JM3)
P10T (p.Pro10Thr) 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.
P10T (p.Pro10Thr) variant details
- p.Pro10Thr
- gnomAD 13-114323870-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 6.34
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available
- Literature evidence available