M5V (p.Met5Val) variant of NIPBL (Nipped-B-like protein)
M5V (p.Met5Val) in NIPBL (Nipped-B-like protein) 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 0.49 / 1. The record also includes population frequency data and structural context.
M5V (p.Met5Val) variant details
- p.Met5Val
- rs1400551368
- NCI-TCGA Cosmic COSV5694
- cosmic curated COSV56942
- gnomAD rs1400551368
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.48
- ESM-1b 0.00
- AlphaMissense 0.86
- CADD 23.30
- PolyPhen-2 0.76
- SIFT 0.14
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available