I95V (p.Ile95Val) variant of CHM (P24386)
I95V (p.Ile95Val) in CHM (P24386) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
I95V (p.Ile95Val) variant details
- p.Ile95Val
- rs2520318193
- ClinGen CA413787838
- ClinVar RCV003737729
- NCI-TCGA Cosmic COSV6256
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.23
- MetaLR 0.27
- MetaSVM -0.69
- CADD 18.70
- PolyPhen-2 0.41
- SIFT 0.13
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.6e-05)
- Structural context available