V13A (p.Val13Ala) variant of CHM (P24386)
V13A (p.Val13Ala) 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 0.54 / 1. The record also includes population frequency data and structural context.
V13A (p.Val13Ala) variant details
- p.Val13Ala
- rs755235198
- ClinGen CA10465684
- ClinVar RCV001908013
- ExAC rs755235198
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.67
- MetaLR 0.50
- MetaSVM 0.07
- CADD 23.90
- PolyPhen-2 0.52
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0039)
- Structural context available