M65I (p.Met65Ile) variant of MCCC1 (Q96RQ3)
M65I (p.Met65Ile) in MCCC1 (Q96RQ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
M65I (p.Met65Ile) variant details
- p.Met65Ile
- cosmic curated COSV55609
- gnomAD rs1337114466
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.31
- CADD 6.31
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available