P7A (p.Pro7Ala) variant of MCM5 (P33992)
P7A (p.Pro7Ala) in MCM5 (P33992) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
P7A (p.Pro7Ala) variant details
- p.Pro7Ala
- rs764150043
- NCI-TCGA Cosmic COSV5334
- cosmic curated COSV53346
- ExAC rs764150043
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.19
- MetaLR 0.08
- MetaSVM -1.06
- CADD 21.70
- PolyPhen-2 0.00
- SIFT 0.60
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available