M71V (p.Met71Val) variant of PMS1 (PMS1 protein homolog 1)
M71V (p.Met71Val) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
M71V (p.Met71Val) variant details
- p.Met71Val
- ExAC rs763541657
- gnomAD rs763541657
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.33
- CADD 4.77
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available